Rare Disease News and Research

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Xgeva receives FDA approval for treating giant cell tumor of the bone

The U.S. Food and Drug Administration today expanded the approved use of Xgeva (denosumab) to treat adults and some adolescents with giant cell tumor of the bone, a rare and usually non-cancerous tumor.

14 Jun 2013

Verastem's VS-6063 gets orphan drug designation from European Commission for use in mesothelioma

Verastem, Inc., focused on discovering and developing drugs to treat cancer by the targeted killing of cancer stem cells, announced that VS-6063 has received orphan medicinal product designation from the European Commission for use in mesothelioma.

13 Jun 2013

Effective method to restore sight to patients with blinding diseases

Researchers at the University of California, Berkeley, have developed an easier and more effective method for inserting genes into eye cells that could greatly expand gene therapy to help restore sight to patients with blinding diseases ranging from inherited defects like retinitis pigmentosa to degenerative illnesses of old age, such as macular degeneration

13 Jun 2013

Researchers discover TTC7A gene that causes multiple intestinal atresia in newborns

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns.

12 Jun 2013

European Commission grants orphan drug designation for maribavir for treatment of CMV disease

ViroPharma Incorporated today announced that the European Commission has granted orphan drug designation for maribavir for treatment of cytomegaloviral disease in patients with impaired cell mediated immunity.

11 Jun 2013

Drug used to control Type II diabetes can help repair spinal cords of mice suffering from inherited disease

A drug used to control Type II diabetes can help repair the spinal cords of mice suffering from the inherited disease adrenoleukodystrophy which, untreated, leads eventually to a paralysis, a vegetative state and death.

10 Jun 2013

Arcturus Therapeutics closes $1.3 M in seed funding round

Arcturus Therapeutics, Inc., an industry leader in RNAi technologies for the treatment of disease, today announced it has raised $1.3 million in a seed funding round led by multiple high net-worth private investors from the United States and Canada.

3 Jun 2013

Synageva BioPharma presents data on cholesteryl ester storage disease at NLA annual meeting

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, announced three poster presentations at the National Lipid Association annual meeting held in Las Vegas, Nevada, May 30- June 2, 2013, as well as a Synageva-sponsored satellite symposium held on Friday, May 31, 2013.

1 Jun 2013

New search tool to help doctors make right diagnosis for patients with rare diseases

If you hear the sound of galloping hooves behind you, your immediate reaction is, 'here comes a horse'. But in very rare cases it is actually a zebra approaching. Doctors are trained to think 'horse' or 'common disease' when they meet patients in their practices, and as they rarely or never meet a 'zebra', in the form of a rare disease, it often takes many years to reach the right diagnosis. A new search tool called FindZebra can dramatically reduce this time in many cases.

22 May 2013

FDA designates Synageva's sebelipase alfa as Breakthrough Therapy for early onset LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced that the U.S. Food and Drug Administration granted Breakthrough Therapy designation to sebelipase alfa for the treatment of early onset lysosomal acid lipase deficiency, also known as Wolman disease.

20 May 2013

Sigma-Tau Pharmaceuticals recognized as a rare disease pioneer

Sigma-Tau Pharmaceuticals, Inc. announced today that the Company was recognized last evening as a rare disease pioneer at the 30th anniversary celebration of The National Organization for Rare Disorders.

15 May 2013

Renaissance in drug development for rare diseases

Once famously described as "orphan diseases, too small to be noticed, too small to be funded" in the Hollywood drama Lorenzo's Oil, rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives for children and other patients with these heartbreaking conditions.

14 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

FDA approves Novartis' Ilaris for treatment of active systemic juvenile idiopathic arthritis

Novartis announced that the US Food and Drug Administration has approved Ilaris (canakinumab) for the treatment of active systemic juvenile idiopathic arthritis in patients aged 2 years and older.

10 May 2013

Synageva BioPharma reports study results of sebelipase alfa in adults with late onset LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today reported 12-month results from an ongoing extension study with sebelipase alfa in adults with late onset Lysosomal Acid Lipase Deficiency.

9 May 2013

CGCF backs Canadian scientist's research on Spinal Muscular Atrophy

The Canadian Gene Cure Foundation, in partnership with the Canadian Institutes of Health Research through its Institute of Genetics, is pleased to announce the awarding of a $90,000 Champions of Genetics: Building the Next Generation Grant to Dr. Faraz Farooq, a Scientist at the Children Hospital of Eastern Ontario Research Institute.

9 May 2013

IDIBELL signs patent licensing agreement with Minoryx

The Bellvittge Biomedical Research Institute has signed a licensing agreement with the Spanish biotechnology company Minoryx of a patent for the treatment of X-linked adrenoleukodystrophy, a rare serious neurodegenerative disease which has no effective treatment.

8 May 2013

Study says influenza immunization is safe in children with IBD

Influenza immunization rates in children with inflammatory bowel disease (IBD) are low despite its safety according to a new study by researchers at the Institute for Clinical Evaluative Sciences (ICES), Children's Hospital of Eastern Ontario (CHEO), the Ottawa Hospital Research Institute (OHRI), and the University of Ottawa.

7 May 2013

Researchers discover gene that can cause 3 different diseases depending on its alteration

An international research consortium led by the Universitat Aut-noma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending on how it is altered.

26 Apr 2013

FDA grants orphan-drug designation to XEN402 for treatment of pain associated with EM

Teva Pharmaceutical Industries Ltd. and Xenon Pharmaceuticals Inc. announced today that the US Food and Drug Administration has granted orphan-drug designation to the investigational drug XEN402 being developed for the treatment of pain associated with erythromelalgia.

24 Apr 2013